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Mitochondrion|February 19, 2011
Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemiaKonstantina Fragaki, Aline Cano, Jean-François Benoist, et al.
Journal of the Peripheral Nervous System : JPNS|July 1, 2025
Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 GenesEndrit Shumeri, Ebrahem Mandorah, Nathalie Martini, et al.
Neuromuscular Disorders : NMD|November 7, 2016
A new mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with early-onset neuromuscular phenotype and ragged-red fibersGodelieve Morel, Sylvie Bannwarth, Annabelle Chaussenot, et al.
European Journal of Medical Genetics|October 17, 2022
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variabilitySamira Ait-El-Mkadem Saadi, Elsa Kaphan, Amaya Morales Jaurrieta, et al.
Journal of Neurology|May 23, 2019
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adultsDaniele Mandia, Annabelle Chaussenot, Gérard Besson, et al.
Journal of Medical Genetics|January 16, 2020
Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformationsFrançoise Bergametti, Geraldine Viot, Christophe Verny, et al.
Brain : a Journal of Neurology|December 23, 2011
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotypeCécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, et al.
European Journal of Human Genetics : EJHG|September 20, 2012
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiencyKonstantina Fragaki, Samira Ait-El-Mkadem, Annabelle Chaussenot, et al.
Neurobiology of Aging|August 27, 2014
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patientsAnnabelle Chaussenot, Isabelle Le Ber, Samira Ait-El-Mkadem, et al.
Human Molecular Genetics|March 24, 2017
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactionsCécile Rouzier, David Moore, Cécile Delorme, et al.
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